A group of single nucleotide polymorphisms (SNPs) related to the risk and aggressiveness of malignant melanoma has been identified. Thus, an in vitro method based on these biomarkers identification is proposed for diagnosis and/or prognosis of malignant melanoma and, additionally, to determine whether these patients respond adequately to treatment.
In the same way, it has been proved with in vitro and in silico expression assays that the proposed SNPs for risk and aggressiveness of malignant melanoma are reinforced.
Malignant melanoma (MM), whose prevalence has been increasing in recent years, is the most aggressive form of skin cancer and represents the leading cause of death from skin diseases.
The intratumoral heterogeneity and the complexity of the current status of germline mutations in this type of cancer make it complex to design therapeutic strategies. In this sense, there is a medical need to find reliable biomarkers for an early diagnosis and prognosis of MM, which will facilitate adequate monitoring of the disease, a correct choice of treatment and the control of its subsequent response.
In this sense, the present invention proposes eight risk SNPs are related to melanoma, proposing them for use as biomarkers and gene signatures of this condition, aiding earlier identification and thus shortening the time to initiation of treatment.
These promising markers form the basis of the in vitro method developed that allows a diagnosis of MM in patients at risk or with signs of suffering it from a simple biological sample (skin tissue, saliva, blood, urine, serum or plasma). As well, it assesses whether patients who are being treated respond to such therapy. Thus, the presence of at least one of these SNPs: CLPTM1L (rs401681), LOC107987026 (rs1335510), TYRP1 (rs2733832), MTAP (rs7023329), TYR (rs1126809), MX2 (rs45430), CTXND2 (rs7412746) and PARP1 (rs3219090); or a high expression level in the TYRP1 and TYR genes are considered indications that the individual has MM, has a poor prognosis or is responding poorly to treatment.
Therefore, this method is an aid to improve precision medicine for MM patients and their closest relatives.
ADVANTAGES AND BENEFITS
- It enables early diagnosis of MM and its prognosis.This method and the eight risk SNPs identified facilitate earlier identification of the disease and its prognosis, thus reducing the time to initiation of treatment.
- Assessment of response to treatment.In patients diagnosed with melanoma who are treating, the proposed method makes it possible to know whether or not the patient is responding to such therapy.
- Improved precision medicine.The proposed in vitro method helps to be more accurate in diagnosing melanoma patients and their closest relatives, making easier the choice of the appropriate treatment for each individual.
- The biological sample to be analyzed is easily accessible: skin tissue, saliva, blood, urine, serum or plasma.
- No specific equipment is required. The genotyping of SNPs and the quantification of the expression levels of these biomarkers is carried out by PCR and/or qPCR, currently popular techniques, generally common and accessible in laboratories of the sector.
- Simple method. The possibility of using a kit or device makes it easier to obtain useful data for the diagnosis and prognosis of this type of melanoma.